ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)

dbSNP: rs397514683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000034874 SCV002519599 pathogenic Cutis laxa, autosomal recessive, type 1B 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000034874 SCV000058480 pathogenic Cutis laxa, autosomal recessive, type 1B 2012-09-03 no assertion criteria provided literature only

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