ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3570A>G (p.Ser1190=)

dbSNP: rs747272918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460802 SCV001664682 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277367 SCV001464314 uncertain significance Familial dysautonomia 2020-08-14 no assertion criteria provided clinical testing

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