ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.327A>G (p.Lys109=)

gnomAD frequency: 0.00018  dbSNP: rs145279962
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 RCV001411646 SCV001613709 likely benign Oculodentodigital dysplasia, autosomal recessive 2020-03-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706114 SCV005225210 likely benign not provided criteria provided, single submitter not provided

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