ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)

gnomAD frequency: 0.00012  dbSNP: rs62636290
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000086327 SCV000608507 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763788 SCV000894701 uncertain significance Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001239396 SCV001412269 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526761 SCV001737299 uncertain significance Leber congenital amaurosis 8 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563888 SCV001786935 uncertain significance Retinitis pigmentosa 12 2021-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935081 SCV004749368 uncertain significance CRB1-related condition 2024-01-02 criteria provided, single submitter clinical testing The CRB1 c.2681A>G variant is predicted to result in the amino acid substitution p.Asn894Ser. This variant has been reported in the absence of second CRB1 variant in patients with retinitis pigmentosa phenotypes (den Hollander et al. 2001. PubMed ID: 11389483; Vallespin et al. 2007. PubMed ID: 18055816). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-197398583-A-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Retina International RCV000086327 SCV000118473 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826778 SCV002090183 uncertain significance Leber congenital amaurosis 2020-04-03 no assertion criteria provided clinical testing

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