ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala)

gnomAD frequency: 0.00004  dbSNP: rs375987841
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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 RCV001241134 SCV001414129 likely benign not provided 2024-05-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835090 SCV002090853 uncertain significance Usher syndrome type 2A 2020-05-11 no assertion criteria provided clinical testing

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