ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2749G>A (p.Ala917Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005145551 SCV005775278 benign Schuurs-Hoeijmakers syndrome 2024-04-15 criteria provided, single submitter clinical testing

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