ClinVar Miner

Submissions for variant NC_000016.10:g.75556260C>T

gnomAD frequency: 0.01305  dbSNP: rs115739052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608110 SCV000728855 benign not specified 2017-02-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000650605 SCV000772452 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704130 SCV005219165 likely benign not provided criteria provided, single submitter not provided

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