ClinVar Miner

Submissions for variant NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp)

dbSNP: rs1783201574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332691 SCV001525079 uncertain significance Intellectual developmental disorder with short stature and variable skeletal anomalies 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV001332691 SCV002004112 pathogenic Intellectual developmental disorder with short stature and variable skeletal anomalies 2021-11-11 no assertion criteria provided literature only

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