ClinVar Miner

Submissions for variant NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)

gnomAD frequency: 0.00154  dbSNP: rs191511427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918562 SCV001063875 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334840 SCV001527808 uncertain significance Intellectual disability, autosomal recessive 43 2018-03-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003950859 SCV004766485 likely benign WASHC4-related disorder 2022-04-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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