ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.273C>T (p.Asp91=)

gnomAD frequency: 0.00001  dbSNP: rs772231917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000860637 SCV001000748 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276644 SCV001463101 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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