ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)

gnomAD frequency: 0.00101  dbSNP: rs553840761
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245103 SCV001418369 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001245103 SCV004157475 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EYS: BP4
Natera, Inc. RCV001278441 SCV001465454 uncertain significance Autosomal recessive retinitis pigmentosa 2020-07-25 no assertion criteria provided clinical testing

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