ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1960T>C (p.Leu654=)

gnomAD frequency: 0.00001  dbSNP: rs765975804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729969 SCV000857672 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing
3billion RCV004725195 SCV005328689 likely benign Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000729969 SCV005722657 likely benign not provided 2024-05-23 criteria provided, single submitter clinical testing

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