ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.553-4_553-3del

dbSNP: rs757409808
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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 RCV001227154 SCV001399496 likely benign not provided 2023-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828814 SCV002082166 uncertain significance Familial dysautonomia 2021-06-03 no assertion criteria provided clinical testing

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