ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5850A>C (p.Lys1950Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003379765 SCV004094059 uncertain significance Inborn genetic diseases 2023-08-22 criteria provided, single submitter clinical testing The c.5850A>C (p.K1950N) alteration is located in exon 46 (coding exon 44) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 5850, causing the lysine (K) at amino acid position 1950 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778081 SCV004615679 likely benign Nemaline myopathy 2 2023-12-30 criteria provided, single submitter clinical testing

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