ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln)

gnomAD frequency: 0.00002  dbSNP: rs771901229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000709784 SCV001070741 likely benign Familial infantile myasthenia 2023-12-14 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709784 SCV000840107 not provided Familial infantile myasthenia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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