ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.275A>G (p.Asp92Gly)

dbSNP: rs786205436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000171136 SCV000196921 pathogenic Fatal infantile mitochondrial cardiomyopathy 2015-01-27 no assertion criteria provided clinical testing
OMIM RCV000186596 SCV000240203 pathogenic Mitochondrial complex 2 deficiency, nuclear type 3 2015-05-26 no assertion criteria provided literature only

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