ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1941G>C (p.Lys647Asn)

gnomAD frequency: 0.00407  dbSNP: rs200634512
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000972352 SCV001120057 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000972352 SCV004012466 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV000972352 SCV005273949 benign not provided criteria provided, single submitter not provided

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