ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.751+6T>C (rs41296099)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128343 SCV000171936 benign not specified 2013-12-27 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427963 SCV000510891 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Invitae RCV001080444 SCV000627072 benign Leigh syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001690 SCV001159258 benign none provided 2020-02-14 criteria provided, single submitter clinical testing

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