ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7197C>T (p.Ile2399=)

gnomAD frequency: 0.00002  dbSNP: rs1305453013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994248 SCV001147672 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994248 SCV001614862 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455028 SCV004183286 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455027 SCV004183287 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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