ClinVar Miner

Submissions for variant NM_020655.4(JPH3):c.626G>C (p.Ser209Thr)

gnomAD frequency: 0.00143  dbSNP: rs144296512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960075 SCV001107023 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253288 SCV001428934 uncertain significance Huntington disease-like 2 2017-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960075 SCV004138043 benign not provided 2022-07-01 criteria provided, single submitter clinical testing JPH3: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003905811 SCV004720662 likely benign JPH3-related disorder 2019-07-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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