ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6687A>G (p.Ala2229=)

gnomAD frequency: 0.00002  dbSNP: rs747606446
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001494290 SCV001698942 likely benign Nemaline myopathy 2 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456498 SCV004183774 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing NEB: BP4, BP7

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