ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.424+10C>T (rs201631086)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246732 SCV000312527 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725190 SCV000334791 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000246732 SCV000615346 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV000725190 SCV001015604 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509531 SCV000607033 not provided Facioscapulohumeral muscular dystrophy 2 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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