ClinVar Miner

Submissions for variant NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)

gnomAD frequency: 0.01994  dbSNP: rs12115733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554240 SCV000641264 benign Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001579690 SCV001848990 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579690 SCV005272550 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579690 SCV001808159 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701036 SCV001921118 benign not specified no assertion criteria provided clinical testing

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