ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)

dbSNP: rs151340626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330763 SCV001522553 likely pathogenic Hypophosphatemic rickets, X-linked recessive 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989678 SCV004806128 uncertain significance Dent disease type 1 2024-03-25 criteria provided, single submitter clinical testing

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