ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1491-2A>G

dbSNP: rs886038203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025397 SCV005649605 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-03-30 criteria provided, single submitter clinical testing
OMIM RCV000241543 SCV000301465 pathogenic Joubert syndrome 28 2016-09-23 no assertion criteria provided literature only

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