ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) (rs144457722)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000655965 SCV000586857 uncertain significance Mental retardation and distinctive facial features with or without cardiac defects criteria provided, single submitter research
Invitae RCV000640147 SCV000761735 benign not provided 2018-11-03 criteria provided, single submitter clinical testing
Invitae RCV001519753 SCV001728680 benign Transposition of the great arteries, dextro-looped 1 2020-11-24 criteria provided, single submitter clinical testing

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