ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.-38G>A (rs112556972)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287178 SCV000482980 benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325790 SCV000482981 benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382819 SCV000482982 benign Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290768 SCV000482983 benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325790 SCV000482984 benign Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406625 SCV000482985 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000662850 SCV000785717 benign Paragangliomas 3 2017-11-14 criteria provided, single submitter clinical testing

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