ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3573-7C>G

gnomAD frequency: 0.00011  dbSNP: rs370571926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000859237 SCV000751666 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Counsyl RCV000630701 SCV000789030 uncertain significance Familial dysautonomia 2016-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000859237 SCV005396456 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000630701 SCV001461181 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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