ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)

gnomAD frequency: 0.00005  dbSNP: rs777069125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239946 SCV001412855 likely benign Nemaline myopathy 2 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034631 SCV004979040 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.17028C>G (p.H5676Q) alteration is located in exon 123 (coding exon 121) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 17028, causing the histidine (H) at amino acid position 5676 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001239946 SCV002084044 uncertain significance Nemaline myopathy 2 2020-06-09 no assertion criteria provided clinical testing

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