ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly)

gnomAD frequency: 0.00004  dbSNP: rs750114221
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 RCV002069354 SCV002446353 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
New York Genome Center RCV001255110 SCV001431203 uncertain significance Intellectual disability, mild 2019-11-14 no assertion criteria provided clinical testing

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