ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20137G>C (p.Val6713Leu)

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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 RCV003023591 SCV003320810 likely benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170893 SCV003871656 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.15034G>C (p.V5012L) alteration is located in exon 104 (coding exon 102) of the NEB gene. This alteration results from a G to C substitution at nucleotide position 15034, causing the valine (V) at amino acid position 5012 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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