ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met)

gnomAD frequency: 0.00004  dbSNP: rs763947043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489248 SCV000577464 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001331598 SCV001523672 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-06-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000489248 SCV004270294 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing

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