ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1750+124C>T

gnomAD frequency: 0.12773  dbSNP: rs17792422
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532861 SCV001748629 benign Familial dysautonomia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001712969 SCV001945536 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712969 SCV005268163 benign not provided criteria provided, single submitter not provided

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