ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr)

gnomAD frequency: 0.00002  dbSNP: rs369846760
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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 RCV000553865 SCV000652986 likely benign Schuurs-Hoeijmakers syndrome 2024-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403326 SCV004136964 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PACS1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003403326 SCV005190371 uncertain significance not provided criteria provided, single submitter not provided

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