ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.661-15T>A

dbSNP: rs1565150720
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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 RCV001333987 SCV001526716 uncertain significance Schuurs-Hoeijmakers syndrome 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333987 SCV003305916 likely benign Schuurs-Hoeijmakers syndrome 2022-06-13 criteria provided, single submitter clinical testing

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