ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])

dbSNP: rs59890097
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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 RCV000057190 SCV001095698 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000990404 SCV001141383 benign Amyotrophic lateral sclerosis type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000057190 SCV001848451 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057190 SCV000088303 not provided not provided no assertion provided not provided

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