ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)

dbSNP: rs2430853
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243018 SCV000312509 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243018 SCV000340767 benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993029 SCV001145725 benign not provided 2018-12-18 criteria provided, single submitter clinical testing
Invitae RCV001510266 SCV001717261 benign Facioscapulohumeral muscular dystrophy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000993029 SCV001889181 benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808706 SCV002057466 benign Arrhinia with choanal atresia and microphthalmia syndrome 2021-07-15 criteria provided, single submitter clinical testing

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