ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.270A>T (p.Gly90=)

gnomAD frequency: 0.00003  dbSNP: rs200640674
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001868168 SCV002186884 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000630691 SCV001463102 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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