ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)

gnomAD frequency: 0.00001  dbSNP: rs753620277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381496 SCV000404299 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296253 SCV000404300 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668894 SCV000793568 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2017-08-18 criteria provided, single submitter clinical testing

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