ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.191-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005020534 SCV005649657 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-06-18 criteria provided, single submitter clinical testing

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