ClinVar Miner

Submissions for variant NM_213595.4(ISCU):c.35C>T (p.Ala12Val)

gnomAD frequency: 0.56452  dbSNP: rs2287555
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676519 SCV001755782 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730707 SCV001980741 benign Hereditary myopathy with lactic acidosis due to ISCU deficiency 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000676519 SCV002341448 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676519 SCV005237532 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676519 SCV000802304 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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