ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.966G>C (p.Ala322=)

gnomAD frequency: 0.05014  dbSNP: rs4653910
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247903 SCV000313529 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247903 SCV000519775 benign not specified 2016-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516747 SCV001725079 benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848037 SCV002104744 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714600 SCV005283573 benign not provided criteria provided, single submitter not provided

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