ClinVar Miner

Submissions for variant NM_018161.5(NADSYN1):c.408-18C>T

gnomAD frequency: 0.56366  dbSNP: rs2282620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001779931 SCV002015980 benign Vertebral, cardiac, renal, and limb defects syndrome 3 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707708 SCV005237396 benign not provided criteria provided, single submitter not provided

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