ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)

gnomAD frequency: 0.00002  dbSNP: rs372541751
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863077 SCV001003672 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495230 SCV002799948 likely benign Medulloblastoma; Familial dysautonomia 2021-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271566 SCV001452827 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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