ClinVar Miner

Submissions for variant NM_001193315.2(VIPAS39):c.-1+408G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471700 SCV002769169 likely benign Arthrogryposis, renal dysfunction, and cholestasis 2 2022-02-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.2, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of autosomal recessive Arthrogryposis, renal dysfunction, and cholestasis 2 (MIM#613404). (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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