ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3503+12G>A

gnomAD frequency: 0.00002  dbSNP: rs78509218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003718297 SCV004509417 likely benign not provided 2022-11-30 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787852 SCV000926867 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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