ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18622C>G (p.Leu6208Val)

gnomAD frequency: 0.00002  dbSNP: rs374727099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694554 SCV000823005 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531493 SCV003744659 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.13519C>G (p.L4507V) alteration is located in exon 92 (coding exon 90) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 13519, causing the leucine (L) at amino acid position 4507 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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