ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.655+63C>T

gnomAD frequency: 0.05627  dbSNP: rs36085075
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835663 SCV000977465 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001527146 SCV001738074 benign Pili torti-deafness syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527147 SCV001738075 benign GRACILE syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527148 SCV001738076 benign Mitochondrial complex III deficiency nuclear type 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835663 SCV005244501 benign not provided criteria provided, single submitter not provided

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