ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)

gnomAD frequency: 0.00021  dbSNP: rs191722579
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486783 SCV000574108 uncertain significance not provided 2020-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000537873 SCV000640690 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525967 SCV003629100 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.16561T>A (p.S5521T) alteration is located in exon 119 (coding exon 117) of the NEB gene. This alteration results from a T to A substitution at nucleotide position 16561, causing the serine (S) at amino acid position 5521 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000486783 SCV003812809 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000537873 SCV001460595 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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