ClinVar Miner

Submissions for variant NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) (rs104894951)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721059 SCV000851944 uncertain significance History of neurodevelopmental disorder 2012-10-12 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000012396 SCV000883120 likely benign Mental retardation 58, X-linked 2018-11-21 criteria provided, single submitter clinical testing
Invitae RCV000904077 SCV001048575 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000012396 SCV001141830 uncertain significance Mental retardation 58, X-linked 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000012396 SCV000032630 pathogenic Mental retardation 58, X-linked 2004-02-01 no assertion criteria provided literature only

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