ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.985+16T>G

gnomAD frequency: 0.14080  dbSNP: rs6133917
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177310 SCV000229157 benign not specified 2015-04-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000177310 SCV000313275 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516876 SCV001725237 benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001530586 SCV001745464 benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530586 SCV005312309 benign not provided criteria provided, single submitter not provided

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