ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) (rs372623270)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000335721 SCV000374353 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404678 SCV000374354 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305550 SCV000374355 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000608071 SCV000711160 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing p.Ala1286Ala in exon 30 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 0.2% (18/9390) of A shkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://g nomad.broadinstitute.org; dbSNP rs372623270).
Invitae RCV000916035 SCV001061265 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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