ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)

gnomAD frequency: 0.00003  dbSNP: rs766310214
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929958 SCV001075599 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000929958 SCV001825290 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454957 SCV004181996 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826944 SCV004181997 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826944 SCV002088304 likely benign Usher syndrome type 2A 2020-02-06 no assertion criteria provided clinical testing

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