ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=)

gnomAD frequency: 0.28781  dbSNP: rs12327477
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245952 SCV000312521 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993033 SCV001145731 benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Invitae RCV001510269 SCV001717264 benign Facioscapulohumeral muscular dystrophy 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000993033 SCV001947868 benign not provided 2019-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808709 SCV002057473 benign Arrhinia with choanal atresia and microphthalmia syndrome 2021-07-15 criteria provided, single submitter clinical testing

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