Submissions for variant NM_004568.6(SERPINB6):c.313-5C>G

gnomAD frequency: 0.00018  dbSNP: rs370994947

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000612626	SCV000711198	uncertain significance	not specified	2016-08-18	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.313-5C>G vari ant in SERPINB6 has been reported in 1 individual with hearing loss; however it did not segregate with disease in the family (Sirmaci 2010). This variant has al so been identified in 0.1% (16/16492) of South Asian chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370994947). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. Howeve r, this information is not predictive enough to rule out pathogenicity. In summa ry, while the clinical significance of the c.313-5C>G variant is uncertain, thes e data suggest that it is more likely to be benign.
GeneDx	RCV001537623	SCV001754524	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001537623	SCV004264610	likely benign	not provided	2023-10-22	criteria provided, single submitter	clinical testing