ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)

dbSNP: rs757300247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242031 SCV000312529 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726357 SCV000344044 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing

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