ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly)

gnomAD frequency: 0.00001  dbSNP: rs1761009822
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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 RCV001307884 SCV001497312 benign Intellectual disability, autosomal dominant 5 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV003313211 SCV004012355 likely benign not provided 2023-07-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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