ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.231C>T (p.Thr77=)

gnomAD frequency: 0.00009  dbSNP: rs375450454
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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) RCV000298979 SCV000332425 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000298979 SCV001902564 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Invitae RCV002059085 SCV002381942 benign Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2023-12-01 criteria provided, single submitter clinical testing

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