ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)

gnomAD frequency: 0.00024  dbSNP: rs200304547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876247 SCV001018798 likely benign Nemaline myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141884 SCV003809594 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027873 SCV004979023 uncertain significance Inborn genetic diseases 2021-11-23 criteria provided, single submitter clinical testing The c.17005C>G (p.P5669A) 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 17005, causing the proline (P) at amino acid position 5669 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000876247 SCV001456479 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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