ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=)

gnomAD frequency: 0.00185  dbSNP: rs140511721
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906816 SCV001051480 benign not provided 2024-12-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495006 SCV002803733 benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-09-01 criteria provided, single submitter clinical testing

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