ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.573G>A (p.Gln191=)

gnomAD frequency: 0.00016  dbSNP: rs142927052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000907903 SCV001500477 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065767 SCV002449744 likely benign Schuurs-Hoeijmakers syndrome 2025-01-28 criteria provided, single submitter clinical testing

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