Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855091 | SCV000998138 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.14319T>C (YP_003024037.1:p.Asn119Asp) variant in MTND6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4 |
OMIM | RCV000010335 | SCV000030561 | risk factor | Autosomal recessive early-onset Parkinson disease 6 | 2008-09-01 | no assertion criteria provided | literature only |