ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)

gnomAD frequency: 0.00277  dbSNP: rs35942802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000556713 SCV000520022 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing
Invitae RCV000556713 SCV000626018 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001271220 SCV002049077 likely benign Familial dysautonomia 2020-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271220 SCV001452224 benign Familial dysautonomia 2019-12-17 no assertion criteria provided clinical testing

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