Submissions for variant NM_024824.5(ZC3H14):c.2204+17_2204+41del

dbSNP: rs571303442

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000966173	SCV001113465	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000966173	SCV001449013	benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966173	SCV003917339	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ZC3H14: BS1, BS2
OMIM	RCV000240871	SCV000299369	pathogenic	Intellectual disability, autosomal recessive 56	2021-12-02	no assertion criteria provided	literature only
Reproductive Health Research and Development, BGI Genomics	RCV000240871	SCV001142443	benign	Intellectual disability, autosomal recessive 56	2020-01-06	no assertion criteria provided	curation	NG_050601.1(NM_024824.4):c.2204+17_2204+41del in ZC3H14 gene has an allele frequency of 0.028 in Ashkenazi Jewish subpopulation in the gnomAD database, including 22 homozygous occurrences. Benign computational verdict because benign prediction from GERP. Pak et al. reported three intellectual disability patients in a consanguineous family with the homozygous of this deletion. Haplotype of the single linkage interval with maximum LOD score of 2.5 in Family-2 (PMID: 21734151). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, BP4, PM3_Supporting, PP1_Strong.