ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.486G>C (p.Lys162Asn)

dbSNP: rs1057518960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414964 SCV000493022 likely pathogenic Cleft upper lip; Narrow nasal bridge; Underdeveloped nasal alae; Finger syndactyly; Sparse hair; 4-5 finger syndactyly; Edema of the dorsum of feet 2014-03-24 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198403 SCV001369329 likely pathogenic Atrioventricular septal defect and common atrioventricular junction 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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