ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.957A>G (p.Thr319=)

gnomAD frequency: 0.00006  dbSNP: rs373242750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180152 SCV000232542 uncertain significance not provided 2014-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180152 SCV001048489 benign not provided 2024-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274745 SCV001459149 likely benign Choroideremia 2020-06-03 no assertion criteria provided clinical testing

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